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This paper sets out good practice for clinicians involved in interpreting variant reports for patients with inherited bleeding disorders. It is aimed primarily at doctors, nurses and allied healthcare professionals who may not have had specific training in genetic testing methodology or reporting. It deals with uncertainty in classification of variant pathogenicity and the handling of incidental findings.

Original publication

DOI

10.1111/hae.13637

Type

Journal article

Journal

Haemophilia

Publication Date

01/2019

Volume

25

Pages

116 - 126

Keywords

clinical genetic testing, consent for genetic testing, genetic interpretation, genetic reporting, inherited bleeding disorders, sequence variant terminology, Blood Coagulation Disorders, Inherited, Breath Tests, Chromosome Aberrations, Genetic Testing, Genotype, Humans, Mosaicism, Pedigree, Phenotype, Uncertainty, United Kingdom